Abstract•AIM:To analyze the relationship of carbonic anhydraseⅡ gene polymorphism with primary open angle glaucoma genetic susceptibility.•METHODS:From January 2012 to December 2014, 50 cases in our hospital for treatment of primary open angle glaucoma ( study group ) and 50 cases in outpatient department of our hospital for health examination ( control group ) were tested. The conventional elbow venous blood was taken.The use of polymerase chain reaction ( PCR ) and restriction fragment length polymorphism test were used to detect the characteristics of carbonic anhydraseⅡgene polymorphism.•RESULTS:The locus site of rs3758078 and rs10504813 of the two groups were in line with Hardy -Weinberg equilibrium law ( Hardy -Weinberg equilibrium ) .The results displayed in rs10504813 site, the difference of genotype frequencies between the two groups was not statistically significant ( P>0.05 ) .But the difference in allele frequencies between the two groups was statistical significance (P0.05 ) .After the carbonic anhydrase Ⅱ polymorphism haplotype analysis in the two groups, TAC ( Tracking area code of cell served by neighbor Enb) haplotype carriers appeared lawer risk of primary open-angle glaucoma.•CONCLUSION:There is certain relation between the polymorphism and the risk of carbonic anhydrase primary open -angle glaucoma, and rs3758078 locus balance may be the main reason for low risk; TAC haplotype carriers appear lower risk of primary open angle glaucoma.%目的：分析碳酸酐酶Ⅱ基因多态性与原发性开角型青光眼遗传易感性的关系。方法：选取2012－01／2014－12在丽水市人民医院进行诊治的原发性开角型青光眼患者（观察组）50例与在丽水市人民医院门诊部体检的健康人（对照组）50例进行试验观察，常规肘静脉取血，使用聚合酶链反应和限制性片段长度多态性技术测试碳酸酐酶Ⅱ基因多态性的特点。结果：两组患者在和rs10504813位点rs3758078位点的分布符合哈迪－温伯格平衡定律（ Hardy －Weinberg equilibrium），且试验结果显示在rs10504813位点中，两组的基因型频率的差异无统计学意义（P＞0．05），但在等位基因频率分布之间的差异具有统计学意义（P＜0．05）；两组在rs3758078位点的基因型频率以及等位基因频率的差异无统计学意义（ P＞0．05）。两组患者在碳酸酐酶Ⅱ基因多态性进行单倍型分析发现， TAC单倍型携带者出现原发性开角型青光眼的风险较小。结论：碳酸酐酶Ⅱ基因多态性与原发性开角型青光眼的患病风险存在一定的关联，rs3758078位点基因平衡可能是患病风险低的主要原因；TAC单倍型携带者出现原发性开角型青光眼的风险较小。
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